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  3. COL8A2
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Corneal abnormalities

Gene: COL8A2

Green List (high evidence)
COL8A2 (collagen type VIII alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000171812
EnsemblGeneIds (GRCh37): ENSG00000171812
OMIM: 120252, Gene2Phenotype
COL8A2 is in 3 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green, and more than 3 families/cases reported.
Created: 20 Feb 2017, 5:33 p.m.
Created: 20 Feb 2017, 5:33 p.m.

Panel version: 0.72

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
fuchs endothelial corneal dystrophy - early onset

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 1, 136800
  • early onset fuchs endothelial corneal dystrophy
OMIM
120252
Clinvar variants
Variants in COL8A2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Feb 2017, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL8A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2017, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL8A2 were set to Corneal dystrophy, Fuchs endothelial, 1, 136800; early onset fuchs endothelial corneal dystrophy

20 Feb 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL8A2 were set to 11689488; 22002996; 15914606; 18024822;18464802

20 Feb 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL8A2 were set to 11689488; 22002996; 15914606;18024822

20 Feb 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL8A2 were set to 11689488; 22002996;15914606

20 Feb 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL8A2 were set to 11689488;22002996

20 Feb 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL8A2 were set to 11689488

19 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL8A2 was added to Corneal abnormalitiespanel. Source: GDL Corneal Abnormalities panel

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

COL8A2 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen